A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547210



Internal ID321084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:24023990..24024010hg38UCSC Ensembl
chr18:21603954..21603974hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716669
Samples
Known GenesTTC39C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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